Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Molecular analysis of Japanese patients with metachromatic leukodystrophy].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Hasegawa Y, Kawame H, Eto Y

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by a deficiency of arylsulfatase A (ASA). Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. To investigate the molecular basis of Japanese patients with MLD, we examined ten Japanese patients for the presence of three known ASA mutations. The results indicate quite different...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Molecular Sequence Data

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 8105116

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Molecular analysis of Japanese patients with metachromatic leukodystrophy].PMID 8105116Read ↗

[Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].Semantic proximity Read ↗

Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.Semantic proximity Read ↗

[Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].Semantic proximity Read ↗

Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.Semantic proximity Read ↗

Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.Semantic proximity Read ↗

[Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].Semantic proximity Read ↗

Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.Semantic proximity Read ↗

Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.Semantic proximity Read ↗

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.Semantic proximity Read ↗

Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.Semantic proximity Read ↗

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.Semantic proximity Read ↗

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.